Canonical Allele Identifier: CA2194550388
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321748G= , CM000677.2:g.89321748G= GRCh38
NC_000015.9:g.89864979G= , CM000677.1:g.89864979G= GRCh37
NC_000015.8:g.87665983G= NCBI36
NG_008218.1:g.18048C=
NG_008218.2:g.18048C=

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2586C= ENSP00000516154.1:p.Ala862=
ENST00000268124.11:c.2586C= MANE Select ENSP00000268124.5:p.Ala862=
ENST00000530292.3:c.2187C= ENSP00000432885.2:p.Ala729=
ENST00000635986.2:c.2586C= ENSP00000490653.2:p.Ala862=
ENST00000636774.1:c.*1153C= ENSP00000489799.1:n.*1153C=
ENST00000637238.1:c.1283C= ENSP00000490756.1:n.1283C=
ENST00000637264.1:c.1658C=
ENST00000666746.1:c.2163C=
ENST00000670281.1:c.800+214C= ENSP00000499709.1:n.800+214C=
ENST00000672071.1:n.2784C=
ENST00000672923.2:n.2528C=
ENST00000268124.9:c.2586C= ENSP00000268124.5:p.Ala862=
ENST00000442287.6:c.2586C= ENSP00000399851.2:p.Ala862=
ENST00000528881.2:c.196-488C=
ENST00000530715.5:c.186-879C= ENSP00000431395.1:n.186-879C=
ENST00000631044.2:c.*2010C= ENSP00000486730.1:n.*2010C=
NM_001126131.1:c.2586C= NP_001119603.1:p.Ala862=
NM_002693.2:c.2586C= NP_002684.1:p.Ala862=
NM_001126131.2:c.2586C= NP_001119603.1:p.Ala862=
NM_002693.3:c.2586C= MANE Select NP_002684.1:p.Ala862=